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Neurofibromatosis von Recklinghausen

Publication at Second Faculty of Medicine |
2009

Abstract

The diagnosis of von Recklinghausen's neurofibromatosis (NF) was described by von Recklinghausen in the late 19th century. In the 1970s, a group of patients with bilateral schwannomas (neurinomas) acoustics (n.VIII) was singled out and the diagnosis was divided into type 1 and type 2.

That these are not variants of one disease, but of two separate units, was confirmed in In the 1990s, he found a gene for type 1 (NF1) on chromosome 17 (17q11.2) and for type 2 (NF2) on chromosome 22 (22q12.2). In addition, the clinical picture of both units is different, including age at the manifestation of the disease.